HPO annotations distribution

HP Patient percentage
Abdominal aortic aneurysm 5.0
Abnormality of the cardiovascular system 25.0
Abnormal aortic morphology 10.0
Phenotypic abnormality 100.0
Abnormality of the vasculature 20.0
All 100.0
Abnormal systemic arterial morphology 10.0
Abnormal cardiovascular system morphology 25.0
Vascular dilatation 5.0
Abnormal morphology of the great vessels 20.0
Abnormal vascular morphology 20.0
Abnormal blood vessel morphology 20.0
Aortic aneurysm 5.0
Cryptorchidism 20.0
Hydroureter 5.0
Hydronephrosis 10.0
Xerostomia 5.0
Pectus excavatum 5.0
Pectus carinatum 10.0
Congenital hip dislocation 5.0
Oligohydramnios 5.0
Patent ductus arteriosus 5.0
Talipes equinovarus 10.0
Anal atresia 5.0
Prune belly 5.0
Aplasia of the abdominal wall musculature 5.0
Congenital posterior urethral valve 5.0
Slow pupillary light response 5.0
Abnormal ureter morphology 5.0
Talipes 10.0
Abnormality of the skeletal system 55.00000000000001
Abnormality of the anus 10.0
Abnormality of limbs 60.0
Abnormality of the abdominal wall 5.0
Abnormality of the lower limb 45.0
Joint dislocation 10.0
Abnormality of the eye 45.0
Abnormal thorax morphology 15.0
Abnormality of prenatal development or birth 15.0
Abnormality of the digestive system 15.0
Abnormal testis morphology 20.0
Abnormality of the musculature 15.0
Abnormality of the ureter 5.0
Abnormal pelvic girdle bone morphology 15.0
Abnormal eye physiology 40.0
Abnormal foot morphology 40.0
Abnormal hip bone morphology 5.0
Abnormality of lower limb joint 10.0
Dilatation of the renal pelvis 10.0
Lower extremity joint dislocation 5.0
Abnormal appendicular skeleton morphology 50.0
Abnormal digestive system morphology 10.0
Abnormal anus morphology 10.0
Abnormal external genitalia 20.0
Abnormal joint morphology 30.0
Abnormal axial skeleton morphology 55.00000000000001
Hip dysplasia 5.0
Abnormal skeletal muscle morphology 5.0
Abnormality of the urethra 10.0
Abnormality of the genitourinary system 25.0
Abnormality of salivation 5.0
Congenital malformation of the great arteries 10.0
Abnormal sternum morphology 10.0
Abnormal male external genitalia morphology 20.0
Abnormal reproductive system morphology 25.0
Abnormality of the upper urinary tract 15.0
Abnormality of the musculoskeletal system 55.00000000000001
Abnormality of the male genitalia 20.0
Abnormality of the amniotic fluid 15.0
Abnormality of the urinary system 20.0
Urethral valve 5.0
Abnormality of the face 55.00000000000001
Hip dislocation 5.0
Positional foot deformity 10.0
Aplasia/Hypoplasia of the abdominal wall musculature 5.0
Abnormal pupillary function 5.0
Abnormal skeletal morphology 55.00000000000001
Abnormal hip joint morphology 5.0
Abnormality of the genital system 25.0
Abnormal pupillary light reflex 5.0
Urethral obstruction 5.0
Abnormal renal morphology 15.0
Abnormal oral physiology 5.0
Abnormality of the kidney 15.0
Abnormal morphology of the abdominal musculature 5.0
Abnormality of the lower urinary tract 10.0
Abnormality of the head 60.0
Abnormality of the mouth 40.0
Urethrovesical occlusion 5.0
Abnormality of head or neck 60.0
Abnormal renal pelvis morphology 10.0
Strabismus 30.0
Abducens palsy 5.0
Abnormal cranial nerve physiology 5.0
Abnormality of the nervous system 50.0
Abnormal nervous system physiology 45.0
Cranial nerve paralysis 5.0
Abnormality of eye movement 30.0
Abnormal conjugate eye movement 30.0
Cleft palate 20.0
Cleft upper lip 5.0
Microcephaly 10.0
Esotropia 5.0
Microphthalmia 5.0
Hypertension 5.0
Cutis marmorata 5.0
Brachydactyly 25.0
Intellectual disability 30.0
Seizure 10.0
Global developmental delay 10.0
Generalized hypotonia 5.0
Pachygyria 5.0
Calvarial skull defect 5.0
Alopecia 5.0
Ventricular septal defect 10.0
Atrial septal defect 5.0
Tetralogy of Fallot 5.0
Pulmonic stenosis 5.0
Bicuspid aortic valve 5.0
Aortic valve stenosis 5.0
Toe syndactyly 20.0
Small nail 5.0
Hypoplasia of the corpus callosum 10.0
Encephalocele 5.0
Pulmonary arterial hypertension 5.0
Ventriculomegaly 10.0
Polymicrogyria 5.0
Cortical dysplasia 5.0
Supernumerary nipple 5.0
Hypoplastic left heart 5.0
Pulmonary artery stenosis 5.0
Periventricular leukomalacia 5.0
Aplasia cutis congenita on trunk or limbs 5.0
Aplasia cutis congenita over posterior parietal area 5.0
Imperforate hymen 5.0
Short digit 30.0
Vascular skin abnormality 5.0
Abnormal heart valve morphology 5.0
Abnormality of the female genitalia 10.0
Abnormality of the integument 65.0
Neurodevelopmental delay 15.0
Abnormal breast morphology 15.0
Abnormal upper lip morphology 15.0
Abnormal forebrain morphology 20.0
Heterotropia 5.0
Abnormal toe morphology 25.0
Abnormality of globe size 10.0
Abnormal lung morphology 10.0
Aplasia/Hypoplasia of the skin 5.0
Abnormality of the pulmonary artery 5.0
Abnormal cardiac ventricle morphology 10.0
Abnormal muscle tone 10.0
Abnormality of the pulmonary vasculature 5.0
Esodeviation 5.0
Abnormal nipple morphology 10.0
Pre-capillary pulmonary hypertension 5.0
Abnormal ventricular septum morphology 10.0
Neural tube defect 10.0
Abnormal cardiac atrium morphology 5.0
Abnormal digit morphology 45.0
Abnormal cerebral white matter morphology 15.0
Orofacial cleft 20.0
Abnormal cerebral cortex morphology 10.0
Abnormal cerebral subcortex morphology 15.0
Aplasia cutis congenita of scalp 5.0
Aplasia/Hypoplasia affecting the eye 5.0
Hypoplastic heart 5.0
Aplasia cutis congenita over parietal area 5.0
Lissencephaly 5.0
Abnormal lip morphology 15.0
Morphological central nervous system abnormality 35.0
Abnormal eye morphology 30.0
Abnormality of the skin 55.00000000000001
Abnormality of the breast 15.0
Abnormal nervous system morphology 35.0
Abnormality of mental function 35.0
Abnormal hair morphology 25.0
Abnormal cerebral ventricle morphology 25.0
Abnormality of limb bone 45.0
Abnormal pulmonary artery morphology 5.0
Thin corpus callosum 15.0
Abnormal vagina morphology 10.0
Abnormal skull morphology 50.0
Abnormal morphology of female internal genitalia 10.0
Abnormal atrial septum morphology 5.0
Cephalocele 5.0
Abnormal respiratory system physiology 20.0
Leukoencephalopathy 5.0
Abnormal aortic valve cusp morphology 5.0
Open neural tube defect 5.0
Abnormal calvaria morphology 40.0
Abnormality of pulmonary circulation 5.0
Abnormal pulmonary valve physiology 5.0
Abnormal cerebral morphology 20.0
Abnormal brain morphology 30.0
Abnormal oral morphology 35.0
Abnormal palate morphology 25.0
Abnormal cardiac septum morphology 10.0
Abnormal skin adnexa morphology 30.0
Abnormal neural tube morphology 10.0
Aplasia cutis congenita 5.0
Abnormal skin morphology 50.0
Abnormality of skull size 15.0
Abnormal corpus callosum morphology 15.0
Aplasia/Hypoplasia involving the central nervous system 15.0
Decreased head circumference 10.0
Hypotonia 10.0
Syndactyly 20.0
Abnormal muscle physiology 10.0
Abnormal ventriculoarterial connection 5.0
Congenital malformation of the left heart 5.0
Abnormal respiratory system morphology 20.0
Cleft lip 5.0
Increased blood pressure 5.0
Conotruncal defect 5.0
Craniofacial cleft 20.0
Abnormal limb bone morphology 45.0
Abnormal heart morphology 15.0
Abnormal aortic valve morphology 5.0
Abnormality of the nail 10.0
Abnormal connection of the cardiac segments 5.0
Abnormal oral cavity morphology 35.0
Abnormal hair quantity 10.0
Aplasia/Hypoplasia of the nails 5.0
Neurodevelopmental abnormality 35.0
Abnormal internal genitalia 10.0
Aplasia/Hypoplasia of the corpus callosum 15.0
Localized skin lesion 35.0
Abnormal vascular physiology 5.0
Abnormal cardiovascular system physiology 5.0
Aplasia/Hypoplasia of the cerebrum 15.0
Abnormal systemic blood pressure 5.0
Generalized abnormality of skin 5.0
Abnormality of neuronal migration 5.0
Elevated pulmonary artery pressure 5.0
Abnormal heart valve physiology 5.0
Abnormality of the respiratory system 20.0
Abnormal periventricular white matter morphology 5.0
Abnormal aortic valve physiology 5.0
Abnormal cortical gyration 5.0
Acanthosis nigricans 5.0
Thickened skin 15.0
Epidermal thickening 15.0
Brachycephaly 25.0
Micrognathia 15.0
Arachnodactyly 5.0
Joint hypermobility 15.0
Broad skull 5.0
Aplasia/hypoplasia involving the skeleton 40.0
Abnormal finger morphology 35.0
Slender finger 5.0
Abnormality of the upper limb 50.0
Aplasia/hypoplasia affecting bones of the axial skeleton 25.0
Abnormal facial skeleton morphology 45.0
Aplasia/Hypoplasia of the mandible 15.0
Abnormality of the hand 50.0
Abnormality of joint mobility 30.0
Abnormal jaw morphology 40.0
Abnormal joint physiology 30.0
Long fingers 10.0
Abnormal mandible morphology 35.0
Aplasia/Hypoplasia involving bones of the skull 15.0
Abnormal musculoskeletal physiology 35.0
Hydrocephalus 20.0
Macrocephaly 5.0
Malar flattening 20.0
Recurrent otitis media 5.0
Conductive hearing impairment 5.0
Choanal stenosis 15.0
Short ribs 5.0
Motor delay 5.0
Megalencephaly 10.0
Limited elbow extension 5.0
Polyhydramnios 10.0
Premature rupture of membranes 5.0
Frontal bossing 10.0
Pulmonary hypoplasia 5.0
Respiratory distress 5.0
Brain stem compression 5.0
Small foramen magnum 5.0
Generalized joint hypermobility 5.0
Upper airway obstruction 5.0
Lumbar hyperlordosis 5.0
Genu varum 5.0
Femoral bowing 5.0
Radial bowing 5.0
Flared metaphysis 5.0
Ulnar bowing 5.0
Limited hip extension 5.0
Short femur 5.0
Narrow greater sciatic notch 5.0
Trident hand 5.0
Severe platyspondyly 5.0
Thoracic hypoplasia 5.0
Depressed nasal bridge 20.0
Spinal stenosis with reduced interpedicular distance 5.0
Lumbar kyphosis in infancy 5.0
Narrow vertebral interpedicular distance 10.0
Rhizomelia 10.0
Neonatal short-limb short stature 5.0
Infantile muscular hypotonia 5.0
Midface retrusion 15.0
Feeding difficulties 5.0
Short femoral neck 5.0
Abnormal cerebrospinal fluid morphology 20.0
Abnormal nasal bridge morphology 20.0
Limitation of joint mobility 15.0
Abdominal symptom 5.0
Limited hip movement 5.0
Otitis media 10.0
Abnormal middle ear morphology 10.0
Abnormal inflammatory response 10.0
Abnormal ear morphology 20.0
Abnormality of upper limb joint 25.0
Abnormal zygomatic bone morphology 20.0
Abnormal midface morphology 25.0
Abnormal shape of the radius 5.0
Bowed forearm bones 5.0
Abnormal upper limb bone morphology 30.0
Short stature 25.0
Abnormal knee morphology 5.0
Abnormality of body height 30.0
Abnormal delivery 5.0
Aplasia/Hypoplasia of the lungs 5.0
Disproportionate short stature 15.0
Abnormality of the nose 35.0
Abnormal ear physiology 25.0
Unusual infection 5.0
Vertebral arch anomaly 10.0
Airway obstruction 5.0
Growth delay 25.0
Abnormality of the calf 5.0
Abnormal vertebral morphology 15.0
Aplasia/Hypoplasia involving bones of the thorax 5.0
Bowing of the arm 5.0
Abnormality of digestive system physiology 5.0
Aplasia/hypoplasia of the extremities 35.0
Abnormality of the middle ear 10.0
Functional abnormality of the middle ear 5.0
Abnormal frontal bone morphology 10.0
Abnormal greater sciatic notch morphology 5.0
Abnormal brainstem morphology 5.0
Abnormal femur morphology 5.0
Aplasia/Hypoplasia of the ribs 5.0
Abnormal shape of the frontal region 10.0
Abnormality of the knee 5.0
Limb undergrowth 10.0
Abnormal forearm morphology 25.0
Abnormal metaphysis morphology 5.0
Abnormal femoral neck/head morphology 5.0
Abnormal curvature of the vertebral column 10.0
Abnormal morphology of ulna 10.0
Increased inflammatory response 10.0
Short long bone 15.0
Bowing of the long bones 5.0
Abnormal choanae morphology 15.0
Dyspnea 5.0
Abnormal forearm bone morphology 25.0
Disproportionate short-limb short stature 15.0
Metaphyseal widening 5.0
Abnormal femoral neck morphology 5.0
Hyperlordosis 5.0
Abnormality of the forehead 25.0
Abnormal nasal morphology 35.0
Abnormality of the vertebral column 15.0
Hearing impairment 25.0
Increased head circumference 5.0
Abnormality of the ear 25.0
Recurrent infections 5.0
Aplasia/Hypoplasia involving the femoral head and neck 5.0
Abnormal foramen magnum morphology 5.0
Abnormal form of the vertebral bodies 10.0
Abnormal lumbar spine morphology 5.0
Lumbar kyphosis 5.0
Abnormal lung development 5.0
Abnormal pattern of respiration 5.0
Abnormality of the immune system 15.0
Abnormal rib cage morphology 5.0
Abnormality of the elbow 20.0
Abnormal long bone morphology 30.0
Platyspondyly 5.0
Abnormal lower limb bone morphology 20.0
Spinal canal stenosis 10.0
Aplasia/hypoplasia involving bones of the extremities 30.0
Abnormal rib morphology 5.0
Abnormal diaphysis morphology 5.0
Abnormal morphology of the radius 25.0
Hearing abnormality 25.0
Limited elbow movement 10.0
Abnormality of immune system physiology 15.0
Aplasia/Hypoplasia involving the pelvis 5.0
Bowing of the legs 5.0
Growth abnormality 35.0
Aplasia/hypoplasia involving bones of the lower limbs 20.0
Aplasia/hypoplasia of the femur 5.0
Paroxysmal sneezing 5.0
Sneeze 5.0
Constitutional symptom 5.0
Tinnitus 5.0
Visual loss 5.0
Diplopia 5.0
Personality changes 5.0
Cafe-au-lait spot 5.0
Axillary freckling 5.0
Neurofibroma 5.0
Ataxia 5.0
Headache 5.0
Vertigo 5.0
Ependymoma 5.0
Juvenile posterior subcapsular lenticular opacities 5.0
Bilateral vestibular schwannoma 5.0
Unilateral vestibular schwannoma 5.0
Astrocytoma 5.0
Peripheral schwannoma 5.0
Retinal hamartoma 5.0
Lisch nodules 5.0
Peripheral neuropathy 5.0
Inguinal freckling 5.0
Epiretinal membrane 5.0
Cortical cataract 5.0
Optic nerve sheath meningioma 5.0
Macular thickening 5.0
Abnormal cranial nerve morphology 5.0
Abnormal fundus morphology 10.0
Vestibular schwannoma 5.0
Malignant neoplasm of the central nervous system 5.0
Atypical behavior 5.0
Abnormal vestibular function 5.0
Hamartoma 5.0
Abnormal peripheral nervous system morphology 5.0
Abnormality of vision 5.0
Macule 5.0
Sarcoma 5.0
Soft tissue sarcoma 5.0
Meningioma 5.0
Abnormality of skin pigmentation 15.0
Abnormality of coordination 5.0
Impairment in personality functioning 5.0
Neuroepithelial neoplasm 5.0
Cataract 5.0
Neoplasm of the central nervous system 5.0
Abnormal uvea morphology 10.0
Hyperpigmentation of the skin 5.0
Hamartoma of the orbital region 5.0
Neoplasm of the inner ear 5.0
Fibroma 5.0
Glioma 5.0
Iris nodule 5.0
Freckling 5.0
Neoplasm 10.0
Neoplasm of the nervous system 5.0
Irregular hyperpigmentation 5.0
Abnormal lens morphology 5.0
Abnormality of the orbital region 35.0
Benign neoplasm of the central nervous system 5.0
Visual impairment 5.0
Abnormal central motor function 5.0
Hypermelanotic macule 5.0
Functional abnormality of the inner ear 5.0
Hamartoma of the eye 5.0
Neoplasm of the eye 5.0
Neoplasm by anatomical site 10.0
Posterior subcapsular cataract 5.0
Abnormality iris morphology 10.0
Schwannoma 5.0
Abnormality of binocular vision 5.0
Neoplasm of the ear 5.0
Neuroectodermal neoplasm 5.0
Nervous tissue neoplasm 5.0
Abnormal astrocyte morphology 5.0
Neoplasm of the skin 5.0
Abnormal glial cell morphology 5.0
Abnormal anterior eye segment morphology 15.0
Zonular cataract 5.0
Subcapsular cataract 5.0
Abnormal meningeal morphology 10.0
Neoplasm by histology 5.0
Abnormality of the vestibulocochlear nerve 5.0
Abnormal retinal morphology 5.0
Fibrous tissue neoplasm 5.0
Abnormal posterior eye segment morphology 10.0
Neoplasm of the peripheral nervous system 5.0
Abnormal macular morphology 5.0
Abnormality of the inner ear 5.0
Vaginal atresia 5.0
Narrow palate 10.0
Bifid uvula 5.0
High palate 10.0
Thin upper lip vermilion 5.0
Large fontanelles 5.0
Brachyturricephaly 10.0
Delayed cranial suture closure 10.0
Mandibular prognathia 20.0
Hypertelorism 20.0
Broad forehead 5.0
High forehead 10.0
Posteriorly rotated ears 5.0
Low-set ears 10.0
Chronic otitis media 5.0
Choanal atresia 10.0
Anteverted nares 10.0
Downslanted palpebral fissures 15.0
Myopia 5.0
Shallow orbits 15.0
Delayed eruption of teeth 10.0
Dental malocclusion 10.0
Hyperhidrosis 5.0
Acne 5.0
Postaxial hand polydactyly 5.0
Preaxial hand polydactyly 5.0
Agenesis of corpus callosum 5.0
Cerebellar hypoplasia 10.0
Absent septum pellucidum 5.0
Pyloric stenosis 5.0
Esophageal atresia 5.0
Overriding aorta 5.0
Delayed epiphyseal ossification 5.0
Humeroradial synostosis 10.0
Ectopic anus 5.0
Coronal craniosynostosis 15.0
Sagittal craniosynostosis 5.0
Lambdoidal craniosynostosis 10.0
Anomalous tracheal cartilage 5.0
Acrobrachycephaly 5.0
Cervical C5/C6 vertebrae fusion 5.0
Rhizomelic arm shortening 5.0
Synostosis of carpal bones 5.0
Wide intermamillary distance 5.0
Chiari type I malformation 5.0
Posterior fossa cyst 5.0
Abnormal morphology of the limbic system 5.0
Broad distal hallux 5.0
Broad distal phalanx of the thumb 5.0
Cutaneous finger syndactyly 5.0
Cutaneous syndactyly of toes 10.0
Prominent forehead 5.0
Flat face 10.0
Arachnoid cyst 5.0
Abnormality of the palpebral fissures 20.0
Abnormal bone structure 15.0
Abnormal ocular adnexa morphology 30.0
Broad thumb 10.0
Genital tract atresia 5.0
Abnormality of the wrist 5.0
Abnormal morphology of bony orbit of skull 15.0
Abnormality of the dentition 20.0
Gastrointestinal atresia 5.0
Abnormal tracheobronchial morphology 10.0
Abnormality of the humerus 10.0
Vertebral fusion 5.0
Abnormality of thumb phalanx 10.0
Abnormal posterior cranial fossa morphology 10.0
Abnormal bone ossification 10.0
Abnormality of the ocular adnexa 30.0
Synostosis involving bones of the hand 5.0
Abnormal skull base morphology 10.0
Synostosis of carpals/tarsals 5.0
Broad phalanges of the hand 10.0
Abnormal finger phalanx morphology 20.0
Postaxial polydactyly 5.0
Abnormal morphology of the nasal alae 15.0
Abnormal tracheal morphology 10.0
Abnormality of the outer ear 10.0
Tooth malposition 15.0
Abnormality of the gastrointestinal tract 5.0
Broad long bones 10.0
Abnormal epiphysis morphology 10.0
Broad hallux 10.0
Broad distal phalanx of finger 5.0
Inflammatory abnormality of the skin 5.0
Abnormal location of ears 10.0
Abnormal enchondral ossification 10.0
Fused cervical vertebrae 5.0
Polydactyly 10.0
Cerebellar malformation 10.0
Abnormality of upper lip vermillion 5.0
Proptosis 15.0
Broad toe 10.0
Finger syndactyly 10.0
Abnormal hallux morphology 20.0
Chiari malformation 10.0
Abnormal carpal morphology 5.0
Abnormal esophagus morphology 5.0
Abnormality of the distal phalanx of the thumb 5.0
Abnormality of the humeroradial joint 15.0
Duplication of phalanx of hand 10.0
Preaxial polydactyly 5.0
Abnormality of globe location 20.0
Abnormal eyelid morphology 25.0
Duplication of bones involving the upper extremities 10.0
Abnormal external nose morphology 20.0
Abnormal stomach morphology 5.0
Abnormal thumb morphology 10.0
Abnormality of the chin 25.0
Hand polydactyly 10.0
Abnormal arachnoid mater morphology 5.0
Thin vermilion border 5.0
Abnormality of skin adnexa physiology 5.0
Abnormal nostril morphology 10.0
Abnormal uvula morphology 5.0
Vertebral segmentation defect 5.0
Abnormality of skin physiology 5.0
Abnormality of the pylorus 5.0
Aplasia/Hypoplasia of the cerebellum 10.0
Abnormal metencephalon morphology 15.0
Abnormal 5th finger morphology 10.0
Duplication of hand bones 10.0
Carpal synostosis 5.0
Abnormality of dental eruption 10.0
Synostosis involving bones of the upper limbs 15.0
Broad finger 10.0
Abnormality of the upper arm 10.0
Central nervous system cyst 5.0
Abnormality of fontanelles 5.0
Intracranial cystic lesion 5.0
Abnormal pinna morphology 10.0
Slanting of the palpebral fissure 15.0
Abnormal hand morphology 35.0
Abnormal soft palate morphology 5.0
Broad phalanx 10.0
Abnormality of the fontanelles or cranial sutures 15.0
Abnormal distal phalanx morphology of finger 10.0
Abnormal hindbrain morphology 15.0
Abnormal gastrointestinal tract morphology 5.0
Synostosis of joints 15.0
Abnormal epiphyseal ossification 10.0
Cutaneous syndactyly 10.0
Abnormality of refraction 5.0
Craniosynostosis 15.0
Abnormal intermamillary distance 5.0
Abnormality of cranial sutures 15.0
Turricephaly 15.0
Synostosis involving the elbow 10.0
Hypohidrosis or hyperhidrosis 5.0
Abnormal facial shape 10.0
Abnormal cerebellum morphology 15.0
Abnormal septum pellucidum morphology 5.0
Oxycephaly 5.0
Low anterior hairline 5.0
Facial asymmetry 5.0
Hypoplasia of the maxilla 15.0
Convex nasal ridge 5.0
Narrow nose 5.0
Ptosis 5.0
Buphthalmos 5.0
Abnormal nasolacrimal system morphology 5.0
Plagiocephaly 5.0
Hallux valgus 5.0
Intellectual disability, moderate 5.0
Skull asymmetry 5.0
Parietal foramina 5.0
Radioulnar synostosis 5.0
Breast carcinoma 5.0
Long nose 5.0
Clinodactyly of the 5th finger 5.0
Flat forehead 5.0
Microtia 5.0
Prominent crus of helix 5.0
Partial duplication of the distal phalanx of the 2nd finger 5.0
Partial duplication of the distal phalanx of the 3rd finger 5.0
Absent first metatarsal 5.0
Cleft of chin 5.0
Abnormality of the frontal hairline 10.0
Abnormal nasal dorsum morphology 5.0
Deviation of the 5th finger 5.0
Aplasia/Hypoplasia involving bones of the feet 15.0
Abnormality of the scalp hair 10.0
Partial duplication of the phalanges of the 3rd finger 5.0
Deviation of toes 5.0
Developmental glaucoma 5.0
Aplasia/Hypoplasia of the ear 5.0
Duplication of phalanx of 3rd finger 5.0
Abnormal scalp morphology 15.0
Ocular anterior segment dysgenesis 5.0
Duplication of the distal phalanx of the 3rd finger 5.0
Abnormality of the distal phalanx of the 3rd finger 5.0
Mesoaxial polydactyly 5.0
Abnormal hair pattern 10.0
Deviation of the hand or of fingers of the hand 5.0
Abnormality of the phalanges of the 2nd finger 5.0
Partial duplication of the phalanx of hand 5.0
Clinodactyly 5.0
Abnormal 3rd finger phalanx morphology 5.0
Abnormality of the distal phalanx of the 2nd finger 5.0
Absent metatarsal bone 5.0
Abnormal maxilla morphology 15.0
Finger clinodactyly 5.0
Abnormal parietal bone morphology 5.0
Abnormal cartilage morphology 5.0
Duplication of phalanx of 2nd finger 5.0
Abnormal metatarsal morphology 10.0
Neoplasm of the breast 5.0
Abnormality of the first metatarsal bone 5.0
Abnormally large globe 5.0
Abnormal helix morphology 5.0
Duplication of the distal phalanx of the 2nd finger 5.0
Mesoaxial hand polydactyly 5.0
Partial duplication of the phalanges of the 2nd finger 5.0
Abnormal 3rd finger morphology 5.0
Glaucoma 5.0
Abnormality of the crus of the helix 5.0
Deviation of finger 5.0
Abnormal 2nd finger morphology 5.0
Duplication of the distal phalanx of hand 5.0
Aplasia/hypoplasia of the 1st metatarsal 5.0
Deviation of the hallux 5.0
Aplasia/Hypoplasia of the external ear 5.0
Abnormality of cartilage of external ear 5.0
Aplasia/Hypoplasia of metatarsal bones 10.0
Abnormality of the hairline 10.0
Polydactyly affecting the 3rd finger 5.0
Polydactyly affecting the 2nd finger 5.0
Partial duplication of the distal phalanges of the hand 5.0
Congenital abnormal hair pattern 10.0
Dental crowding 5.0
Cloverleaf skull 5.0
Bronchomalacia 5.0
Elbow ankylosis 5.0
Short nose 5.0
Short middle phalanx of toe 5.0
Tracheal cartilaginous sleeve 5.0
Shortening of all middle phalanges of the fingers 5.0
3-4 toe cutaneous syndactyly 5.0
Aplasia/Hypoplasia of the middle phalanges of the hand 5.0
Abnormal toe phalanx morphology 5.0
Aplasia/Hypoplasia of toe 5.0
Aplasia/Hypoplasia of fingers 5.0
Aplasia/Hypoplasia of the phalanges of the hand 10.0
Aplasia/hypoplasia involving bones of the hand 20.0
Short middle phalanx of finger 5.0
Aplasia/hypoplasia involving bones of the upper limbs 20.0
Abnormal bronchus morphology 5.0
Abnormality of the middle phalanges of the toes 5.0
Short toe 5.0
Ankylosis 5.0
Short finger 5.0
Abnormal middle phalanx morphology of the hand 5.0
Short phalanx of finger 10.0
Unilateral renal agenesis 5.0
Hypogonadism 5.0
Epicanthus 5.0
Broad nasal tip 5.0
Blue irides 5.0
Optic atrophy 5.0
Hypodontia 5.0
Congenital hypothyroidism 5.0
Irregular menstruation 5.0
Melanocytic nevus 5.0
Broad palm 5.0
Intrauterine growth retardation 10.0
Small for gestational age 5.0
Mild postnatal growth retardation 5.0
Long hallux 5.0
Scoliosis 5.0
Hyperphosphatemia 5.0
Elevated circulating thyroid-stimulating hormone concentration 5.0
Dislocated radial head 5.0
Elevated circulating parathyroid hormone level 5.0
Elevated circulating calcitonin concentration 5.0
Short palm 10.0
Calvarial hyperostosis 5.0
Accelerated skeletal maturation 5.0
Neonatal epiphyseal stippling 5.0
Hypoplastic vertebral bodies 5.0
Short metacarpal 10.0
Cone-shaped epiphyses of the phalanges of the hand 5.0
Short metatarsal 5.0
Mild global developmental delay 5.0
Decreased growth hormone responses to growth hormone-releasing hormone challenge 5.0
Abnormality of the anterior pituitary 5.0
Renal agenesis 5.0
Abnormality of the radial head 5.0
Abnormality of reproductive system physiology 5.0
Abnormal blood phosphate concentration 5.0
Abnormality of body weight 10.0
Decreased body weight 5.0
Hypothyroidism 5.0
Abnormal nasal tip morphology 10.0
Postnatal growth retardation 5.0
Abnormal number of teeth 5.0
Abnormal metacarpal morphology 10.0
Abnormality of thyroid physiology 5.0
Abnormality of the thyroid gland 5.0
Abnormal hand epiphysis morphology 5.0
Decreased response to growth hormone stimulation test 5.0
Acute phase response 5.0
Abnormal epiphysis morphology of the phalanges of the hand 5.0
Puberty and gonadal disorders 5.0
Abnormal circulating metabolite concentration 5.0
Abnormal upper limb epiphysis morphology 5.0
Abnormal pituitary gland morphology 5.0
Abnormal palm morphology 15.0
Abnormal iris pigmentation 5.0
Aplasia/Hypoplasia involving the vertebral column 5.0
Renal hypoplasia/aplasia 5.0
Phalangeal cone-shaped epiphyses 5.0
Anterior hypopituitarism 5.0
Nevus 5.0
Abnormal female reproductive system physiology 5.0
Tooth agenesis 5.0
Abnormal circulating hormone concentration 5.0
Upper extremity joint dislocation 5.0
Abnormal thyroid-stimulating hormone level 5.0
Abnormal blood ion concentration 5.0
Abnormality of the hypothalamus-pituitary axis 5.0
Cranial hyperostosis 5.0
Aplasia/Hypoplasia of the vertebrae 5.0
Abnormality of the endocrine system 5.0
Abnormal response to endocrine stimulation test 5.0
Hypopituitarism 5.0
Epiphyseal stippling 5.0
Aplasia/Hypoplasia involving the metacarpal bones 10.0
Long toe 5.0
Elbow dislocation 5.0
Abnormal circulating calcium-phosphate regulating hormone concentration 5.0
Abnormal circulating calcitonin concentration 5.0
Vertebral hypoplasia 5.0
Abnormality of skeletal maturation 5.0
Abnormal endocrine physiology 5.0
Abnormality of metabolism/homeostasis 5.0
Abnormal optic nerve morphology 5.0
Abnormal optic disc morphology 5.0
Cone-shaped epiphysis 5.0
Hyperostosis 5.0
Abnormal limb epiphysis morphology 5.0
Ectopic calcification 5.0
Abnormality of the menstrual cycle 5.0
Hypospadias 5.0
Widow's peak 5.0
Prominent nose 5.0
Webbed neck 5.0
Carious teeth 5.0
Single transverse palmar crease 5.0
Cerebellar vermis hypoplasia 5.0
Cerebral cortical atrophy 5.0
Enlarged cisterna magna 5.0
Spina bifida occulta 5.0
Preauricular pit 5.0
Mandibulofacial dysostosis 5.0
Abnormal dermatoglyphics 5.0
Displacement of the urethral meatus 5.0
Abnormal spinal cord morphology 5.0
Spinal dysraphism 5.0
Abnormal palmar dermatoglyphics 5.0
Atrophy/Degeneration affecting the central nervous system 5.0
Abnormal male urethral meatus morphology 5.0
Regional abnormality of skin 15.0
Brain atrophy 5.0
Abnormal penis morphology 5.0
Abnormal skin morphology of the palm 10.0
Abnormal periauricular region morphology 5.0
Spina bifida 5.0
High anterior hairline 5.0
Aplasia/Hypoplasia of the cerebellar vermis 5.0
Abnormal cerebellar vermis morphology 5.0
Abnormal neck morphology 5.0
Atrophy/Degeneration affecting the cerebrum 5.0
Abnormality of the palmar creases 5.0
Craniofacial dysostosis 5.0
Skin pit 5.0
Cerebral atrophy 5.0
Enlarged posterior fossa 5.0
Abnormality of dental structure 5.0
Periauricular skin pits 5.0
Abnormality of the neck 5.0
Abnormal cheek morphology 5.0
Fine hair 5.0
Allergy 5.0
Papule 10.0
Skin plaque 5.0
Immunologic hypersensitivity 5.0
Abnormality of hair texture 5.0
Hyperkeratosis 10.0
Acrokeratosis 10.0
Skin nodule 10.0
Ridged nail 5.0
Punctate palmoplantar hyperkeratosis 5.0
Verrucous papule 5.0
Epidermal acanthosis 5.0
Acantholysis 5.0
Abnormality of the plantar skin of foot 5.0
Plantar hyperkeratosis 5.0
Palmar hyperkeratosis 5.0
Nail dysplasia 5.0
Abnormal epidermal morphology 5.0
Palmoplantar hyperkeratosis 5.0
Symmetric great toe depigmentation 5.0
Tall stature 5.0
Soft skin 5.0
Large hands 10.0
Long foot 5.0
Cutis gyrata of scalp 5.0
Periostosis 5.0
Abnormal elasticity of skin 5.0
Abnormal periosteum morphology 5.0
Sloping forehead 5.0
Bulbous nose 5.0
Telecanthus 5.0
Blepharophimosis 5.0
Synophrys 5.0
Tapered finger 5.0
Specific learning disability 5.0
Large for gestational age 5.0
Deep philtrum 5.0
Highly arched eyebrow 5.0
Thickened calvaria 5.0
Thick nasal alae 5.0
Short 5th metacarpal 5.0
Thick vermilion border 5.0
Abnormality of the philtrum 5.0
Abnormal eyebrow morphology 5.0
Hypertrichosis 5.0
Increased body weight 5.0
Aplasia/Hypoplasia of the 5th metacarpal 5.0
Abnormal 5th metacarpal morphology 5.0
Facial hypertrichosis 5.0
Abnormal size of the palpebral fissures 5.0

Ontoplot. Different calls examples (Click me)

Dynamic ontoplot, frequency by size and opacity, opacity low values fixed by cubic root, guide lines set by ontology term points
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "dynamic", freq_by="both", fix_alpha="cubic_root", guide_lines="ont")

Dynamic ontoplot, frequency by size, guide lines set by concentric lines at each level of the ontology
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "dynamic", freq_by="size", fix_alpha="none", guide_lines="grid")

Dynamic ontoplot, frequency by opacity, no guide lines used
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "dynamic", freq_by="alpha", fix_alpha="none", guide_lines="none")

Static ontoplot, frequency by size and opacity, opacity low values fixed by cubic root, guide lines set by ontology term points
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "static", freq_by="both", fix_alpha="bins", guide_lines="ont")

Static ontoplot, frequency by size, guide lines set by concentric lines at each level of the ontology
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "static", freq_by="size", fix_alpha="none", guide_lines="grid")

Static ontoplot, frequency by opacity, no guide lines used
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "static", freq_by="alpha", fix_alpha=lambda x: x**(1/3), guide_lines="none")

Dynamic ontoplot centered in HP:0012443 (Abnormal brain morphology), using childs of HP:0012443 as main branches colors, frequency by size and opacity, opacity low values fixed by cubic root, guide lines set by ontology term points
plotter.ontoplot(ontology="ontology", root_node="HP:0012443", reference_node="HP:0012443", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "dynamic", freq_by="both", fix_alpha="cubic_root", guide_lines="ont")

Canvasxpress ontoplot, frequency by size (only mode), guide lines set by ontology term points
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=700, width=1400, title=f"Profiles signature", mode = "canvas", freq_by="size", fix_alpha="none", guide_lines="ont")


Canvasxpress ontoplot, frequency by size (only mode), guide lines set by concentric lines at each level of the ontology
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=700, width=1400, title=f"Profiles signature", mode = "canvas", freq_by="size", fix_alpha="none", guide_lines="grid")